CHROMOSOME ABNORMALITIES IN SPONTANEOUS ABORTIONS: APPLICATION OF MULTICOLOR FLUORESCENT IN SITU HYBRIDIZATION AND ORIGINAL DNA PROBES FOR CHROMOSOMES 1, 9, 13, 14, 16, 18, 21, 22, X AND Y
Vorsanova SG1,*, Kirilova EA2, Yurov YB3, Kolotii AD1, Monakhov VV3, Iourov IY3, Beresheva AK1
*Corresponding Author: : Professor Dr. Svetlana G. Vorsanova, Director of Molecular-Cytogenetic Laboratory of Neuropsychiatric Diseases, Institute of Pediatrics and Children Surgery, Russian Ministry of Health, TaldomŽskaya str 2, 127 412 Moscow, Russia; Tel.: +7-095-484-1948; Fax: +7-095-952-8940; E-mail: y_yurov@ yahoo.com
page: 49

RESULTS

We applied two- or three-color FISH using DNA probes for chromosomes 1, 9, 13, 14, 16, 18, 21, 22, X, and Y, to investigate chromosomal abnormalities in 63 specimens of spontaneous abortions, including three twin pregnancies. The expected karyotypes, based on applica­tion of a probe set for the 10 chromosomes listed below, are presented in Table 1. We cannot exclude the presence of chromosomal aneuploidies involving other chromo­somes (2, 3, 4, 5, 6, 7, 8, 10, 11, 12, 15, 17, 19, 20) not been tested by FISH in the present study.


The chromosomal abnormality was found in 39 (61.9%) spontaneous abortion specimens. The most com­mon chromosomal abnormality was aneuploidy of chromo­somes 13 or 21 (seven specimens) (17.9%), chromosome 16 (six specimens) (15.4%), and sex chromosomes (11 specimens) (28.2%). An abnormality of chromosome 1 was found in two specimens (5.1%), chromosome 9 in three specimens (7.7%), chromosome 14 or 22 in two specimens (5.1%), and chromosome 18 in one specimen (2.7%). Polyploidy (triploidy and tetraploidy) was found in seven specimens (17.9% from abnormal specimens) with an abnormal karyotype. The percentage of abnormal male fetuses was 73.3% (11/15 specimens) and abnormal female fetuses was 50% (24/48 specimens). Two examples of results obtained by FISH are presented in Fig. 1. More than half (20/39 or 51.3%) of spontaneous abortions with chromosomal abnormalities had mosaic forms of aneu­ploidy or polyploidy. We have detected a prevalence of female fetuses (male/female ratio 15/48).

 

Table 1. Fluorescent in situ hybridization analysis of spontaneous abortions: application of an original DNA probe set for chromosomes 1, 9, 13, 14, 16, 18, 21, 22, X and Y (expected karyotypes based on application of corresponding set of DNA probes).

 

 




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